ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766023
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_001365383.1:p.Asp3294His
CA1714798
NM_001378454.1:c.9880G>C