ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495962
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423504
ClinVar RCV Id:
RCV000479594
RCV001085744
RCV002383930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Asp3295His
CA1714798
NM_015120.4:c.9883G>C