ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741951227
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2636906
ClinVar RCV Id:
RCV003421082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Gln2562Lys
CA347263839
NM_015120.4:c.7684C>A