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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
Allele Registry
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Canonical Allele Identifier:
CA2605625355
Gene: MMADHC-DT
HGNC
NCBI
LINC01931
HGNC
NCBI
Linked Data
dbSNP Id:
rs2105035635
gnomAD v3:
2-149798800-AT-A
gnomAD v4:
2-149798800-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.149798801del , CM000664.2:g.149798801del
GRCh38
NC_000002.11:g.150655315del , CM000664.1:g.150655315del
GRCh37
NC_000002.10:g.150363561del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110240.1:n.536-49108del
(MMADHC-DT)
NR_145421.1:n.1341+5381del
(LINC01931)
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