ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168948
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131947
RCV000239288
RCV000486631
RCV000549625
ClinVar Variation:
142628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met297Val
CA003950
NM_007294.4:c.889A>G