ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829700194
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2687847
ClinVar RCV Id:
RCV003488812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Asp338Asn
CA059914
NM_007298.3:c.1012G>A