ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496000
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240977
ClinVar RCV Id:
RCV000233166
RCV000437494
RCV000825109
RCV002444912
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ile3786Val
CA1715173
NM_015120.4:c.11356A>G