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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:
CA2685283402
Gene: MGAM
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
gnomAD v4:
7-141972614-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141972616del , CM000669.2:g.141972616del
GRCh38
NC_000007.13:g.141672416del , CM000669.1:g.141672416del
GRCh37
NC_000007.12:g.141318885del
NCBI36
NG_016141.1:g.6159del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465654.5:c.-3+26619del
(MGAM)
ENSP00000419372.1:n.-3+26619del
XM_011515783.1:c.*25-13780del
(OR9A4)
XP_011514085.1:n.*25-13780del
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