ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339981
Gene: ASL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2401
ClinVar RCV Id:
RCV000002502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020114.1:p.Arg385Cys
CA339980
NM_001024943.2:c.1153C>T