ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694639
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433712
ClinVar RCV Id:
RCV000501000
RCV001037456
RCV002329188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1407Ile
CA10592821
NM_007297.4:c.4219G>A