ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688595
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54168
ClinVar RCV Id:
RCV000111569
RCV000223347
RCV001342656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp364Asn
CA000807
NM_007297.4:c.1090G>A