ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691414
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216656
ClinVar RCV Id:
RCV000198115
RCV000487931
RCV001015913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu805Val
CA337653
NM_007297.4:c.2413C>G