ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573262247
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1424840
ClinVar RCV Id:
RCV001924074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Trp3664Gly
CA1715098
NM_015120.4:c.10990T>G