ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127305
Gene: CA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17606
ClinVar RCV Id:
RCV000019172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001729.1:p.Arg247His
CA127304
NM_001738.5:c.740G>A