ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693335
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409344
ClinVar RCV Id:
RCV000475050
RCV000775766
RCV003238761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1198Asn
CA10594499
NM_007297.4:c.3593G>A