ClinGen Allele Registry
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Canonical Allele Identifier:
PA658811218
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529367
ClinVar RCV Id:
RCV000634774
RCV001172517
RCV001557628
RCV002360539
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Pro1272Gln
CA1713596
NM_015120.4:c.3815C>A