ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707244
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409339
ClinVar RCV Id:
RCV000474239
RCV000774938
RCV001072799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1653Met
CA053429
NM_007300.4:c.4957G>A