ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA185653
Gene: GLA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180021
ClinVar RCV Id:
RCV000156824
RCV000209285
RCV000209022
RCV001781498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000160.1:p.Ile253Thr
CA022050
NM_000169.3:c.758T>C