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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA2692610884
Gene: PMPCA
HGNC
NCBI
Linked Data
gnomAD v4:
9-136410615-G-GGGAAGCCGTGGGCGGAAGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.136410621_136410639dup , CM000671.2:g.136410621_136410639dup
GRCh38
NC_000009.11:g.139305073_139305091dup , CM000671.1:g.139305073_139305091dup
GRCh37
NC_000009.10:g.138424894_138424912dup
NCBI36
NG_046789.1:g.5049_5067dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000371717.7:c.-48_-30dup
ENSP00000360782.3:n.-48_-30dup
NM_001282944.1:c.-346_-328dup
NP_001269873.1:n.-346_-328dup
NM_001282946.1:c.-346_-328dup
NP_001269875.1:n.-346_-328dup
NM_015160.2:c.-48_-30dup
NP_055975.1:n.-48_-30dup
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